Vitamin D Heritability: twin studies – 20 percent to 85 percent, GWAS 5 percent

Created October 2018

The genetics of vitamin D.

Bone. 2018 Oct 11. pii: S8756-3282(18)30370-3. doi: 10.1016/j.bone.2018.10.006. [Epub ahead of print]

This study appears to only look at the effect of genes on Vitamin D level in blood. Seems to be unaware that genes can reduce the Vitamin D level in cells Wonder if they consider the gene ACTIVATION effects on Vitamin D in cells --- * Multiple Sclerosis more likely if poor vitamin D genes - 22nd study – Aug 2017 * Afib increase by 3X for the 1 in 16 people having poor genes (example of health problem) – Aug 2018 * Health problems can persist through many generations – Epigenetics and Vitamin D 1. Genetics category listing contains the following {include}

PDF is available free at Sci-Hub  10.1016/j.bone.2018.10.006

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Jiang X1, Kiel DP2, Kraft P3.

  • 1 Program in Genetic Epidemiology, Harvard T.H. Chan School of Public Health, 677 Huntington Ave, Brookline, Boston 02115, USA; Unit of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institute, Nobels vagen 13, Stockholm 17177, Sweden xiajiang@hsph.harvard.edu.

  • 2 Institute for Aging Research, Hebrew SeniorLife, 1200 Centre Street, Boston, MA 02131, United States; Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, United States; Broad Institute of Harvard and Massachusetts Institute of Technology, Boston, MA 02142, United States.

  • 3 Program in Genetic Epidemiology, Harvard T.H. Chan School of Public Health, 677 Huntington Ave, Brookline, Boston 02115, USA.

Vitamin D plays an essential role in human health as it influences immune function, cell proliferation, differentiation and apoptosis. Vitamin D deficiency has been associated with numerous health outcomes, including bone disease, cancer, autoimmune disease, cardiovascular conditions and more. However, the causal role of vitamin D beyond its importance for bone health remains unclear and is under much debate.

Twin and familial studies from past decades have demonstrated a nontrivial heritability of circulating vitamin D concentrations.

Several large-scale genome-wide association studies (GWAS) have discovered associations of GC, NADSYN1/DHCR7, CYP2R1, CYP24A1, SEC23A, AMDHD1 with serum levels of vitamin D. A recent whole genome sequencing (WGS) study, combined with deep imputation of genome-wide genotyping, has identified a low-frequency synonymous coding variant at CYP2R1. Information on these genetic variants can be used as tools for downstream analysis such as Mendelian randomization. Here, we review the genetic determinants of circulating vitamin D levels by focusing on new findings from GWAS and WGS, as well as results from Mendelian randomization analyses conducted so far for vitamin D with various traits and diseases. The amount of variation in vitamin D explained by genetics is still small, and the putative causal relationship between vitamin D and other diseases remains to be demonstrated.

Tags: Genetics